期刊
CURRENT OPINION IN CHEMICAL BIOLOGY
卷 53, 期 -, 页码 204-215出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.cbpa.2019.10.006
关键词
Glycosphingolipids; Lysosome; Gaucher disease; Glucocerebrosidase; Glucosylsphingosine
Glycosphingolipids are important building blocks of the outer leaflet of the cell membrane. They are continuously recycled, involving fragmentation inside lysosomes by glycosidases. Inherited defects in degradation cause lysosomal glycosphingolipid storage disorders. The relatively common glyco-sphingolipidosis Gaucher disease is highlighted here to discuss new insights in the molecular basis and pathophysiology of glyco-sphingolipidoses reached by fundamental research increasingly using chemical biology tools. We discuss improvements in the detection of glycosphingolipid metabolites by mass spectrometry and review new developments in laboratory diagnosis and disease monitoring as well as therapeutic interventions.
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